February 26, 2009

New ALS gene mutation is discovered

A U.S.-led team of scientists says it has discovered a new gene mutation, ALS6, that might lead to new treatments for amyotrophic lateral sclerosis.

ALS, also known as Lou Gehrig's disease, is a progressive, neurodegenerative disease that affects nerve cells in the brain and spinal cord.

The researchers said their discovery provides important clues to the causes of inherited ALS, which accounts for 10 percent of all cases, and sporadic ALS, which accounts for the other 90 percent and occurs in individuals with no family history of the disease.

This is a momentous discovery in furthering our understanding of ALS, said Lucie Bruijn, senior vice president of research and development at the ALS Association, which funded the study. A new gene provides a new piece of the puzzle we can use to shed light on why ALS develops, and where to focus our efforts on creating new treatments and finding a cure.

The research was led by Drs. Tom Kwiatkowski at Massachusetts General Hospital and Robert Brown of the University of Massachusetts School of Medicine and included researchers Caroline Vance and Dr. Christopher Shaw of Kings College in London and a consortium of ALS researchers from around the world.

The study is reported in the Feb. 27 issue of the journal Science.